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https://www.readbyqxmd.com/read/27933755/maternal-pre-pregnancy-bmi-downregulates-neonatal-cord-blood-lep-methylation
#1
R Kadakia, Y Zheng, Z Zhang, W Zhang, L Hou, J L Josefson
BACKGROUND: Neonatal adiposity has many determinants and may be a risk factor for future obesity. Epigenetic regulation of metabolically important genes is a potential contributor. OBJECTIVES: The objective of the study is to determine whether methylation changes in the LEP gene in cord blood DNA are impacted by the maternal environment or affect neonatal adiposity measures. METHODS: A cross-sectional study of 114 full-term neonates born to healthy mothers with normal glucose tolerance was performed...
December 8, 2016: Pediatric Obesity
https://www.readbyqxmd.com/read/27933543/integrative-analysis-of-genetic-genomic-and-phenotypic-data-for-ethanol-behaviors-a-network-based-pipeline-for-identifying-mechanisms-and-potential-drug-targets
#2
James W Bogenpohl, Kristin M Mignogna, Maren L Smith, Michael F Miles
Complex behavioral traits, such as alcohol abuse, are caused by an interplay of genetic and environmental factors, producing deleterious functional adaptations in the central nervous system. The long-term behavioral consequences of such changes are of substantial cost to both the individual and society. Substantial progress has been made in the last two decades in understanding elements of brain mechanisms underlying responses to ethanol in animal models and risk factors for alcohol use disorder (AUD) in humans...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933530/visualization-of-results-from-systems-genetics-studies-in-chromosomal-context
#3
Karen Y Oróstica, Ricardo A Verdugo
This chapter describes methods currently available for visualizing results from systems genetics experiments. Here, we abstract from the statistical methods used for genetic mapping, which are dependent on the specific resource being used, i.e. F2, RILs, or outbred populations among others. We use a public dataset with results from a mouse eQTL experiment for three examples of visualization: genome-wide dot plots of marker-by-gene association, karyotype-like plots, and circos plots. Dot plots give a first overview of the results from eQTL mapping, allowing detecting genome-wide patterns of cis- and trans-genetic association to transcription level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933525/expression-qtls-mapping-and-analysis-a-bayesian-perspective
#4
Martha Imprialou, Enrico Petretto, Leonardo Bottolo
The aim of expression Quantitative Trait Locus (eQTL) mapping is the identification of DNA sequence variants that explain variation in gene expression. Given the recent yield of trait-associated genetic variants identified by large-scale genome-wide association analyses (GWAS), eQTL mapping has become a useful tool to understand the functional context where these variants operate and eventually narrow down functional gene targets for disease. Despite its extensive application to complex (polygenic) traits and disease, the majority of eQTL studies still rely on univariate data modeling strategies, i...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933404/genome-wide-high-content-sirna-screening-identifies-the-alzheimer-s-genetic-risk-factor-fermt2-as-a-major-modulator-of-app-metabolism
#5
Julien Chapuis, Amandine Flaig, Benjamin Grenier-Boley, Fanny Eysert, Virginie Pottiez, Gaspard Deloison, Alexandre Vandeputte, Anne-Marie Ayral, Tiago Mendes, Shruti Desai, Alison M Goate, John S K Kauwe, Florence Leroux, Adrien Herledan, Florie Demiautte, Charlotte Bauer, Fréderic Checler, Ronald C Petersen, Kaj Blennow, Henrik Zetterberg, Lennart Minthon, Vivianna M Van Deerlin, Virginia Man-Yee Lee, Leslie M Shaw, John Q Trojanowski, Marilyn Albert, Abhay Moghekar, Richard O'Brien, Elaine R Peskind, Nicolas Malmanche, Gerard D Schellenberg, Pierre Dourlen, Ok-Ryul Song, Carlos Cruchaga, Philippe Amouyel, Benoit Deprez, Priscille Brodin, Jean-Charles Lambert
Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer's disease (AD). However, understanding how these genes are involved in the pathophysiology of AD is one of the main challenges of the "post-GWAS" era. At least 123 genes are located within the 19 susceptibility loci; hence, a conventional approach (studying the genes one by one) would not be time- and cost-effective. We therefore developed a genome-wide, high-content siRNA screening approach and used it to assess the functional impact of gene under-expression on APP metabolism...
December 8, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27933381/genome-wide-identification-and-functional-analysis-of-s-rnase-involved-in-the-self-incompatibility-of-citrus
#6
Mei Liang, Wei Yang, Shiying Su, Lili Fu, Hualin Yi, Chuanwu Chen, Xiuxin Deng, Lijun Chai
S-RNase-based self-incompatibility is found in Solanaceae, Rosaceae, and Scrophulariaceae, and is the most widespread mechanism that prevents self-fertilization in plants. Although 'Shatian' pummelo (Citrus grandis), a traditional cultivated variety, possesses the self-incompatible trait, the role of S-RNases in the self-incompatibility of 'Shatian' pummelo is poorly understood. To identify genes associated with self-incompatibility in citrus, we identified 16 genes encoding homologs of ribonucleases in the genomes of sweet orange (Citrus sinensis) and clementine mandarin (Citrus clementine)...
December 8, 2016: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/27933312/the-genetics-and-epigenetics-of-ptsd-overview-recent-advances-and-future-directions
#7
Christina M Sheerin, Mackenzie J Lind, Kaitlin Bountress, Nicole R Nugent, Ananda B Amstadter
This paper provides a brief summary and commentary on the growing literature and current developments related to the genetic underpinnings of posttraumatic stress disorder (PTSD). We first briefly provide an overview of the behavioral genetic literature on PTSD, followed by a short synopsis of the substantial candidate gene literature with a focus on genes that have been meta-analyzed. We then discuss the genome-wide association studies (GWAS) that have been conducted, followed by an introduction to other molecular platforms used in PTSD genomic studies, such as epigenetic and expression approaches...
April 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/27932584/the-eif3-complex-of-typanosoma-brucei-composition-conservation-does-not-imply-the-conservation-of-structural-assembly-and-subunits-function
#8
Kunrao Li, Shuru Zhou, Qixuan Guo, Xin Chen, Dehua Lai, Zhaorong Lun, Xuemin Guo
The multisubunit eukaryotic initiation factor 3 (eIF3) plays multiple roles in translation, but poorly understood in trypanosomes. The putative subunits eIF3a and eIF3f of Trypanosoma brucei (TbIF3a and TbIF3f) were overexpressed and purified, and 11 subunits were identified, TbIF3a through l minus j, which form a tight complex. Both TbIF3a and TbIF3f are essential for viability of T. brucei. RNAi knockdown of either of them severely reduced total translation and the ratio of polysome/80S peak area. TbIF3f and TbIF3a RNAi cell lines were modified to express tagged-TbIF3a and -TbIF3f, respectively...
December 8, 2016: RNA
https://www.readbyqxmd.com/read/27932479/progress-in-understanding-the-genetics-of-calcium-containing-nephrolithiasis
#9
John A Sayer
Renal stone disease is a frequent condition, causing a huge burden on health care systems globally. Calcium-based calculi account for around 75% of renal stone disease and the incidence of these calculi is increasing, suggesting environmental and dietary factors are acting upon a preexisting genetic background. The familial nature and significant heritability of stone disease is known, and recent genetic studies have successfully identified genes that may be involved in renal stone formation. The detection of monogenic causes of renal stone disease has been made more feasible by the use of high-throughput sequencing technologies and has also facilitated the discovery of novel monogenic causes of stone disease...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27932274/a-glutathione-s-transferase-tugstd05-associated-with-acaricide-resistance-in-tetranychus-urticae-directly-metabolizes-the-complex-ii-inhibitor-cyflumetofen
#10
Nena Pavlidi, Mousaalreza Khalighi, Antonis Myridakis, Wannes Dermauw, Nicky Wybouw, Dimitra Tsakireli, Euripides G Stephanou, Nikolaos E Labrou, John Vontas, Thomas Van Leeuwen
Cyflumetofen is a recently introduced acaricide with a novel mode of action, acting as an inhibitor of complex II of mitochondrial electron transport chain. It is activated by hydrolysis and the resulting de-esterified metabolite is a much stronger inhibitor. Cyflumetofen represents a great addition for the control of mite species including Tetranychus urticae, a major agricultural pest, which has the ability to develop resistance to most classes of pesticides rapidly. A resistant strain (Tu008R) was recently described and synergism experiments pointed towards the involvement of GSTs...
December 5, 2016: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27932233/schizophrenia-risk-alleles-and-neurodevelopmental-outcomes-in-childhood-a-population-based-cohort-study
#11
Lucy Riglin, Stephan Collishaw, Alexander Richards, Ajay K Thapar, Barbara Maughan, Michael C O'Donovan, Anita Thapar
BACKGROUND: Schizophrenia typically onsets after puberty but is often preceded by observable childhood neurodevelopmental impairments. Whether these childhood antecedents index genetic liability is unknown. We used polygenic risk scores derived from a patient discovery sample as indicators of the genetic liability of schizophrenia. Our aim was to identify the early childhood manifestations of this liability in a UK population-based cohort. METHODS: The study sample was the Avon Longitudinal Study of Parents and Children, a prospective population-based cohort study of 14701 children...
December 5, 2016: Lancet Psychiatry
https://www.readbyqxmd.com/read/27932076/single-nucleotide-polymorphisms-in-dna-glycosylases-from-function-to-disease
#12
Mariarosaria D'Errico, Eleonora Parlanti, Barbara Pascucci, Paola Fortini, Sara Baccarini, Valeria Simonelli, Eugenia Dogliotti
Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype...
December 5, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27931260/prediction-of-breast-cancer-risk-based-on-common-genetic-variants-in-women-of-east-asian-ancestry
#13
Wanqing Wen, Xiao-Ou Shu, Xingyi Guo, Qiuyin Cai, Jirong Long, Manjeet K Bolla, Kyriaki Michailidou, Joe Dennis, Qin Wang, Yu-Tang Gao, Ying Zheng, Alison M Dunning, Montserrat García-Closas, Paul Brennan, Shou-Tung Chen, Ji-Yeob Choi, Mikael Hartman, Hidemi Ito, Artitaya Lophatananon, Keitaro Matsuo, Hui Miao, Kenneth Muir, Suleeporn Sangrajrang, Chen-Yang Shen, Soo H Teo, Chiu-Chen Tseng, Anna H Wu, Cheng Har Yip, Jacques Simard, Paul D P Pharoah, Per Hall, Daehee Kang, Yongbing Xiang, Douglas F Easton, Wei Zheng
BACKGROUND: Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. METHODS: We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS)...
December 8, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27931187/computational-strategies-for-alternative-single-step-bayesian-regression-models-with-large-numbers-of-genotyped-and-non-genotyped-animals
#14
Rohan L Fernando, Hao Cheng, Bruce L Golden, Dorian J Garrick
BACKGROUND: Two types of models have been used for single-step genomic prediction and genome-wide association studies that include phenotypes from both genotyped animals and their non-genotyped relatives. The two types are breeding value models (BVM) that fit breeding values explicitly and marker effects models (MEM) that express the breeding values in terms of the effects of observed or imputed genotypes. MEM can accommodate a wider class of analyses, including variable selection or mixture model analyses...
December 8, 2016: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/27930647/allelic-variation-in-cxcl16-determines-cd3-t-lymphocyte-susceptibility-to-equine-arteritis-virus-infection-and-establishment-of-long-term-carrier-state-in-the-stallion
#15
Sanjay Sarkar, Ernest Bailey, Yun Young Go, R Frank Cook, Ted Kalbfleisch, John Eberth, R Lakshman Chelvarajan, Kathleen M Shuck, Sergey Artiushin, Peter J Timoney, Udeni B R Balasuriya
Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory, systemic, and reproductive disease of horses and other equid species. Following natural infection, 10-70% of the infected stallions can become persistently infected and continue to shed EAV in their semen for periods ranging from several months to life. Recently, we reported that some stallions possess a subpopulation(s) of CD3+ T lymphocytes that are susceptible to in vitro EAV infection and that this phenotypic trait is associated with long-term carrier status following exposure to the virus...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27930557/application-of-array-comparative-genomic-hybridization-in-tetralogy-of-fallot
#16
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Dong Wu, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930411/comprehensive-dna-methylation-profiling-of-inflammatory-mucosa-in-ulcerative-colitis
#17
Tomomitsu Tahara, Ichiro Hirata, Naoko Nakano, Mitsuo Nagasaka, Yoshihito Nakagawa, Tomoyuki Shibata, Naoki Ohmiya
INTRODUCTION: Aberrant DNA methylation frequently occurs in the inflammatory mucosa in ulcerative colitis (UC) and is involved in UC-related tumorigenesis. We performed comprehensive DNA methylation profiling of the promoter regions of the inflamed rectal mucosae of patients with UC. DESIGN: The methylation status of the promoter CpG islands (CGIs) of 45 cancer/inflammation or age-related candidate genes and the LINE1 repetitive element were examined in the colonic mucosae of 84 cancer-free patients with UC by bisulfite pyrosequencing...
December 7, 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27930340/powerdress-and-hda9-interact-and-promote-histone-h3-deacetylation-at-specific-genomic-sites-in-arabidopsis
#18
Yun Ju Kim, Ruozhong Wang, Lei Gao, Dongming Li, Chi Xu, Hyunggon Mang, Jien Jeon, Xiangsong Chen, Xuehua Zhong, June M Kwak, Beixin Mo, Langtao Xiao, Xuemei Chen
Histone acetylation is a major epigenetic control mechanism that is tightly linked to the promotion of gene expression. Histone acetylation levels are balanced through the opposing activities of histone acetyltransferases (HATs) and histone deacetylases (HDACs). Arabidopsis HDAC genes (AtHDACs) compose a large gene family, and distinct phenotypes among AtHDAC mutants reflect the functional specificity of individual AtHDACs However, the mechanisms underlying this functional diversity are largely unknown. Here, we show that POWERDRESS (PWR), a SANT (SWI3/DAD2/N-CoR/TFIII-B) domain protein, interacts with HDA9 and promotes histone H3 deacetylation, possibly by facilitating HDA9 function at target regions...
December 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27930333/tet-proteins-influence-the-balance-between-neuroectodermal-and-mesodermal-fate-choice-by-inhibiting-wnt-signaling
#19
Xiang Li, Xiaojing Yue, William A Pastor, Lizhu Lin, Romain Georges, Lukas Chavez, Sylvia M Evans, Anjana Rao
TET-family dioxygenases catalyze conversion of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) and oxidized methylcytosines in DNA. Here, we show that mouse embryonic stem cells (mESCs), either lacking Tet3 alone or with triple deficiency of Tet1/2/3, displayed impaired adoption of neural cell fate and concomitantly skewed toward cardiac mesodermal fate. Conversely, ectopic expression of Tet3 enhanced neural differentiation and limited cardiac mesoderm specification. Genome-wide analyses showed that Tet3 mediates cell-fate decisions by inhibiting Wnt signaling, partly through promoter demethylation and transcriptional activation of the Wnt inhibitor secreted frizzled-related protein 4 (Sfrp4)...
December 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27930307/cosmc-is-an-x-linked-inflammatory-bowel-disease-risk-gene-that-spatially-regulates-gut-microbiota-and-contributes-to-sex-specific-risk
#20
Matthew R Kudelka, Benjamin H Hinrichs, Trevor Darby, Carlos S Moreno, Hikaru Nishio, Christopher E Cutler, Jianmei Wang, Huixia Wu, Junwei Zeng, Yingchun Wang, Tongzhong Ju, Sean R Stowell, Asma Nusrat, Rheinallt M Jones, Andrew S Neish, Richard D Cummings
Inflammatory bowel disease (IBD) results from aberrant immune stimulation against a dysbiotic mucosal but relatively preserved luminal microbiota and preferentially affects males in early onset disease. However, factors contributing to sex-specific risk and the pattern of dysbiosis are largely unexplored. Core 1 β3GalT-specific molecular chaperone (Cosmc), which encodes an X-linked chaperone important for glycocalyx formation, was recently identified as an IBD risk factor by genome-wide association study. We deleted Cosmc in mouse intestinal epithelial cells (IECs) and found marked reduction of microbiota diversity in progression from the proximal to the distal gut mucosa, but not in the overlying lumen, as seen in IBD...
December 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
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